Prenatal diagnosis of 22q11 microdeletion in an early second‐trimester fetus with conotruncal anomaly presenting with increased nuchal translucency and bilateral intracardiac echogenic foci

Machlitt, A.; Tennstedt, C.; Körner, H.; Bommer, Christiane; Chaoui, Rabih

doi:10.1046/j.1469-0705.2002.00688.x

Cited by 35 publications

(21 citation statements)

References 19 publications

(21 reference statements)

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“…There were also reported several genetic disorders associated with CAT, such as: DiGeorge syndrome in approximatively 40% of the cases [16][17][18][19][20][21], trisomies 21, 18, or 13 in 4.5% of the cases [22,23], or even rare cases of trisomy 8 [24]. In addition, extracardiac malformations, such as genito-urinary abnormalities were also described in over 40% of the cases [19,21,22].…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of the fetal common arterial trunk. A case series

Mărginean¹,

Gozar

Mărginean

et al. 2018

Med Ultrason

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Fetal common arterial trunk is an anomaly represented by a unique arterial trunk that arouses from the base of the heart, and gives birth to systemic branches, both pulmonary and coronary, frequently associated with a ventricular septal defect (VSD) and has a poor prognosis. We present a series of 17 cases diagnosed in our tertiary center with different types of fetal common arterial trunk, its associated disorders, the evolution of the pregnancies, and of the neonates. We concluded that our cases support the fact that a complete intrauterine evaluation of each case of the common arterial trunk is impossible. The postnatal prognosis of the cases from our center was fatal, similar to most reports of the literature.

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Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of the fetal common arterial trunk. A case series

Mărginean¹,

Gozar

Mărginean

et al. 2018

Med Ultrason

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“…[30,31] Moreover, abnormalities in the four-chamber view are present in only 30% of cases of conotruncal anomalies. [32] Prenatal diagnosis of truncus arteriosus with fetal echocardiography has been reported as early as the first trimester (using high resolution transvaginal ultrasound),[33] at 16 weeks of gestation in a fetus with increased nucal translucency and bilateral echogenic foci,[34] and at 18 weeks of gestation in a fetus with intrauterine growth restriction. [35] However, most cases are diagnosed between 20 and 25 weeks.…”

Section: Discussionmentioning

confidence: 99%

“…[16] Despite the reported sporadic association with trisomy 18,[57] duplication of 8q,[58,59] terminal deletion of 7q,[60] and mosaicism for ring chromosome 22,[35] the most frequent chromosomal abnormality in fetuses with truncus arteriosus is microdeletion of 22q11, detectable in up to 40% of cases when a cytogenetic examination is performed. [16,34,61–64] In fact, conotruncal heart defects are the most common cardiovascular malformations seen in the presence of 22q11 deletion. [65] Moreover, monosomy 22q11 has been associated with distinct phenotypes affecting the derivatives of the third and fourth branchial pouches, such as: DiGeorge sequence, velocardiofacial syndrome, conotruncal anomaly face syndrome, facial dysmorphic features, CHARGE syndrome (coloboma of the eye, heart defects, atresia of the nasal choanae, retardation of growth and/or development, genital and/or urinary abnormalities, ear abnormalities and deafness), and cases of isolated complex cardiovascular malformations.…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of truncus arteriosus using multiplanar display in 4D ultrasonography

Gotsch¹,

Romero²,

Espinoza³

et al. 2009

The Journal of Maternal-Fetal & Neonatal Medicine

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Prenatal diagnosis of truncus arteriosus with two-dimensional (2D) sonography requires expertise in fetal echocardiography. Indeed, truncus arteriosus shares with tetralogy of Fallot and pulmonary atresia with a ventricular septal defect (VSD) the sonographic finding of a single arterial trunk overriding a VSD. The diagnosis of truncus arteriosus can be confirmed when either the main pulmonary artery or its branches are visualized arising from the truncus itself. This requires sequential examination of multiple scanning planes and a process of mental reconstruction of their spatial relationships. The advantage of multiplanar imaging in three-dimensional and four-dimensional ultrasonography is that it allows for the simultaneous visualization of three orthogonal anatomic planes, which can be very important in diagnosing cardiac abnormalities. We report, first, a case of truncus arteriosus diagnosed in utero where the multiplanar display modality provided important insight into the differential diagnosis of this conotruncal anomaly, and then, review the diagnosis of truncus arteriosus on ultrasound.

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“…Although the pathogenesis of TAC is not understood, the cytogenetic examination reveals in up to 30% of cases a microdeletion in chromosome region 22q11, prompting examination for extracardiac manifestations [15][16][17][18][19][20]. Since TAC and other conotruncal malformations are the most frequent cardiac malformations associated with neuroblastoma, the hypothesis has been established that both might be related to aberrant neural crest cell development [20,21].…”

Section: Introductionmentioning

confidence: 99%

Truncus arteriosus communis in a midtrimester fetus: comparison of prenatal ultrasound and MRI with postmortem MRI and autopsy

Mühler¹,

Rake²,

Schwabe³

et al. 2004

Eur Radiol

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Different techniques are used in fetal cardiology, and their accuracy has been demonstrated on several occasions. Color Doppler US has proved to be a reliable and valuable tool in the diagnosis of fetal cardiac abnormalities. Magnetic resonance imaging (MRI) of the fetal heart has, so far, played no role in prenatal diagnostics. We report on a truncus arteriosus communis diagnosed prenatally during a screening ultrasound at 22 weeks of gestation. In addition to real-time ultrasound and color Doppler echocardiography, fetal MRI was performed. Fetal echocardiography arose suspicion of a type I common trunk. Fetal MR showed solely a widened vessel coursing retrocardially and additionally an inhomogeneous fluid distribution of the lung not shown on prenatal US. After termination of pregnancy at 23 weeks of gestation, MR fetography and autopsy were performed, and both found a type II common trunk. MR autopsy of the heart was very reliable in this case and could be an alternative when fetal pathology is not available for different reasons. Postmortem MRI was also able to demonstrate the inhomogeneous fluid distribution in the lung, which was confirmed by autopsy. Fetal and postmortem MR was reliable in the detection of an inhomogeneous fluid distribution in the lung not shown on prenatal US, providing a relevant additional finding to US. Therefore, MRI should be used more often in fetal cardiology, although it still must be further developed.

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Prenatal diagnosis of 22q11 microdeletion in an early second‐trimester fetus with conotruncal anomaly presenting with increased nuchal translucency and bilateral intracardiac echogenic foci

Abstract: We report on a 16-week

Cited by 35 publications

References 19 publications

Prenatal diagnosis of the fetal common arterial trunk. A case series

Prenatal diagnosis of the fetal common arterial trunk. A case series

Prenatal diagnosis of truncus arteriosus using multiplanar display in 4D ultrasonography

Truncus arteriosus communis in a midtrimester fetus: comparison of prenatal ultrasound and MRI with postmortem MRI and autopsy

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